Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.200 | 6 | 77461407 | downstream gene variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 6 | 118318224 | downstream gene variant | T/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 31377392 | downstream gene variant | TAAATAAA/-;TAAA;TAAATAAATAAA;TAAATAAATAAATAAA;TAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 5 | 1392596 | downstream gene variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 55555546 | downstream gene variant | A/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 10 | 114998320 | downstream gene variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 143264057 | downstream gene variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 16 | 55707385 | downstream gene variant | T/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.040 | 12 | 71938373 | upstream gene variant | T/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
3 | 0.925 | 0.040 | 9 | 90646879 | upstream gene variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 0.925 | 0.040 | 5 | 1446274 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2009 | 2014 | ||||
|
6 | 0.827 | 0.080 | 16 | 55652906 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 232802953 | upstream gene variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 1447647 | upstream gene variant | G/C;T | snv | 6.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 232799973 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 20 | 53935345 | upstream gene variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 19 | 47868938 | upstream gene variant | C/T | snv | 0.80 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 121055487 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.040 | 6 | 40277470 | upstream gene variant | T/C | snv | 0.91 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 5 | 1445501 | upstream gene variant | A/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 |